Variant report

Variant	rs9573606
Chromosome Location	chr13:76240592-76240593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10507833	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11617360	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12427985	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12430746	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12869054	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1323693	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1575478	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1924176	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2281763	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs33991813	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34222504	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34512564	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34939695	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35915164	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61958092	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61958094	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9565180	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9573608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9593111	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9593112	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9593115	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9600515	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9600518	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9600521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9573606	RP11-173B14.5	cis	Artery Tibial	GTEx
rs9573606	UCHL3	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
2	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:76231400-76240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr13:76231800-76240600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:76233800-76240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:76235800-76249200	Weak transcription	Aorta	Aorta
7	chr13:76236000-76249200	Weak transcription	Ovary	ovary
8	chr13:76236600-76240600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:76236600-76240600	Weak transcription	HSMM	muscle
10	chr13:76236800-76240600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:76236800-76240800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:76236800-76267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:76237200-76248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:76239000-76243000	Weak transcription	NH-A	brain
15	chr13:76240000-76240600	Enhancers	Osteobl	bone
16	chr13:76240200-76241200	Enhancers	NHDF-Ad	bronchial
17	chr13:76240200-76241400	Enhancers	NHLF	lung
18	chr13:76240200-76241800	Enhancers	NHEK	skin
19	chr13:76240200-76242000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr13:76240400-76240600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:76240400-76241200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:76240400-76241200	Enhancers	Psoas Muscle	Psoas
23	chr13:76240400-76241200	Enhancers	HSMMtube	muscle
24	chr13:76240400-76241400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr13:76240400-76241600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:76240400-76241800	Enhancers	HMEC	breast
27	chr13:76240400-76242000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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